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A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma.

Abstract
Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helical rod domain of keratin 9. This provides further evidence that this codon is an important spot for mutation in keratin 9.
AuthorsV A Morgan, K Byron, L Paiman, G A Varigos
JournalThe Australasian journal of dermatology (Australas J Dermatol) Vol. 40 Issue 4 Pg. 215-6 (Nov 1999) ISSN: 0004-8380 [Print] Australia
PMID10570560 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Keratins
Topics
  • Child, Preschool
  • Humans
  • Keratins (genetics)
  • Keratoderma, Palmoplantar (genetics)
  • Male
  • Point Mutation

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